Evaluation of a Program for Long-Term Treatment of Duchenne Muscular Dystrophy. Experience at the University Hospitals of Cleveland*

1996 ◽  
Vol 78 (12) ◽  
pp. 1844-52 ◽  
Author(s):  
PAUL J. VIGNOS ◽  
MARILYN B. WAGNER ◽  
BRENDA KARLINCHAK ◽  
BASHAR KATIRJI
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Term Treatment ◽  
University Hospitals ◽  
Long Term Treatment ◽  
The University

scholarly journals Comparison of Long-term Ambulatory Function in Patients with Duchenne Muscular Dystrophy Treated with Eteplirsen and Matched Natural History Controls

2021 ◽  
pp. 1-11
Author(s):  
Jerry R. Mendell ◽  
Navid Khan ◽  
Nanshi Sha ◽  
Helen Eliopoulos ◽  
Craig M. McDonald ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Gene Mutations ◽  
Exon Skipping ◽  
Term Treatment ◽  
Long Term Treatment ◽  
The Difference ◽  
Dmd Gene ◽  
6 Minute Walk Test

Background: Duchenne muscular dystrophy (DMD) is a rare, X-linked, fatal, degenerative neuromuscular disease caused by DMD gene mutations. A relationship between exon skipping and dystrophin production in exon 51-amenable patients treated with eteplirsen (EXONDYS 51 ®) is established. Once-weekly eteplirsen significantly increased dystrophin, with slower decline in ambulatory function compared to baseline. Long-term treatment with eteplirsen leads to accumulation of dystrophin over time and observed functional benefits in patients with DMD. Objective: Compare long-term ambulatory function in eteplirsen-treated patients versus controls. Methods: Study 201/202 included 12 eteplirsen-treated patients assessed twice/year for ambulatory function over 4 years. Ambulatory evaluations (6-minute walk test [6MWT], loss of ambulation, and North Star Ambulatory Assessment [NSAA]) were compared with matched controls from Italian Telethon and Leuven registries. Results: At Years 3 and 4, eteplirsen-treated patients demonstrated markedly greater mean 6MWT than controls (difference in change from baseline of 132 m [95%CI (29, 235), p = 0.015] at Year 3 and 159 m [95%CI (66, 253), p = 0.002] at Year 4). At Year 4, a significantly greater proportion of eteplirsen-treated patients were still ambulant versus controls (10/12 vs 3/11; p = 0.020). At Year 3, eteplirsen-treated patients had milder NSAA decline than controls (difference in change from baseline of 2.6, 95%CI [-6, 11]), however, the difference was not statistically significant; Year 4 control NSAA data were not available. Conclusion: In this retrospective matched control study, eteplirsen treatment resulted in attenuation of ambulatory decline over a 4-year observation period, supporting long-term benefit in patients with DMD.

scholarly journals Long-term treatment with eteplirsen in nonambulatory patients with Duchenne muscular dystrophy

Medicine ◽  
2019 ◽  
Vol 98 (26) ◽  
pp. e15858 ◽  
Author(s):  
Lindsay N. Alfano ◽  
Jay S. Charleston ◽  
Anne M. Connolly ◽  
Linda Cripe ◽  
Cas Donoghue ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Term Treatment ◽  
Long Term Treatment

Effect of a long-term treatment with metformin in dystrophic mdx mice: A reconsideration of its potential clinical interest in Duchenne muscular dystrophy

2018 ◽  
Vol 154 ◽  
pp. 89-103 ◽  
Author(s):  
Paola Mantuano ◽  
Francesca Sanarica ◽  
Elena Conte ◽  
Maria Grazia Morgese ◽  
Roberta Francesca Capogrosso ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Term Treatment ◽  
Mdx Mice ◽  
Long Term Treatment ◽  
Clinical Interest

scholarly journals Cyclosporine A in Ullrich Congenital Muscular Dystrophy: Long-Term Results

2011 ◽  
Vol 2011 ◽  
pp. 1-10 ◽  
Author(s):  
Luciano Merlini ◽  
Patrizia Sabatelli ◽  
Annarita Armaroli ◽  
Saverio Gnudi ◽  
Alessia Angelin ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Cyclosporine A ◽  
Congenital Muscular Dystrophy ◽  
Respiratory Muscles ◽  
Primary Outcome Measure ◽  
Term Treatment ◽  
Long Term Results ◽  
Long Term Treatment ◽  
Ullrich Congenital Muscular Dystrophy

Six individuals with Ullrich congenital muscular dystrophy (UCMD) and mutations in the genes-encoding collagen VI, aging 5–9, received 3–5 mg/kg of cyclosporine A (CsA) daily for 1 to 3.2 years. The primary outcome measure was the muscle strength evaluated with a myometer and expressed as megalimbs. The megalimbs score showed significant improvement (P=0.01) in 5 of the 6 patients. Motor function did not change. Respiratory function deteriorated in all. CsA treatment corrected mitochondrial dysfunction, increased muscle regeneration, and decreased the number of apoptotic nuclei. Results from this study demonstrate that long-term treatment with CsA ameliorates performance in the limbs, but not in the respiratory muscles of UCMD patients, and that it is well tolerated. These results suggest considering a trial of CsA or nonimmunosuppressive cyclosporins, that retains the PTP-desensitizing properties of CsA, as early as possible in UCMD patients when diaphragm is less compromised.

Cricopharyngeal Dilatation for the Long-term Treatment of Dysphagia in Oculopharyngeal Muscular Dystrophy

Dysphagia ◽  
2011 ◽  
Vol 27 (2) ◽  
pp. 216-220 ◽  
Author(s):  
Joseph G. Manjaly ◽  
Peter G. Vaughan-Shaw ◽  
Oliver T. Dale ◽  
Susan Tyler ◽  
Jonathan C. R. Corlett ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Term Treatment ◽  
Oculopharyngeal Muscular Dystrophy ◽  
Long Term Treatment

scholarly journals Autopsy findings after long-term treatment of COVID-19 patients with microbiological correlation

2021 ◽  
Author(s):  
Katja Evert ◽  
Thomas Dienemann ◽  
Christoph Brochhausen ◽  
Dirk Lunz ◽  
Matthias Lubnow ◽  
...  
Keyword(s):  
Macrophage Activation Syndrome ◽  
Macrophage Activation ◽  
Fungal Infections ◽  
Diffuse Alveolar Damage ◽  
Fungal Species ◽  
Term Treatment ◽  
University Hospital ◽  
Long Term Treatment ◽  
The University

AbstractBetween April and June 2020, i.e., during the first wave of pandemic coronavirus disease 2019 (COVID-19), 55 patients underwent long-term treatment in the intensive care unit at the University Hospital of Regensburg. Most of them were transferred from smaller hospitals, often due to the need for an extracorporeal membrane oxygenation system. Autopsy was performed in 8/17 COVID-19-proven patients after long-term treatment (mean: 33.6 days). Autopsy revealed that the typical pathological changes occurring during the early stages of the disease (e.g., thrombosis, endothelitis, capillaritis) are less prevalent at this stage, while severe diffuse alveolar damage and especially coinfection with different fungal species were the most conspicuous finding. In addition, signs of macrophage activation syndrome was detected in 7 of 8 patients. Thus, fungal infections were a leading cause of death in our cohort of severely ill patients and may alter clinical management of patients, particularly in long-term periods of treatment.

scholarly journals Cricopharyngeal dilatation for the long-term treatment of dysphagia in oculopharyngeal muscular dystrophy

2011 ◽  
Vol 9 (7) ◽  
pp. 517
Author(s):  
Joseph Manjaly ◽  
Peter Vaughan-Shaw ◽  
Oliver Dale ◽  
Susan Tyler ◽  
Jonathan Corlett ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Term Treatment ◽  
Oculopharyngeal Muscular Dystrophy ◽  
Long Term Treatment

scholarly journals Philadelphia College of Osteopathic Medicine Examines Embryonic Cells to Find the Origin of Muscles With Image Analysis Software

2000 ◽  
Vol 8 (7) ◽  
pp. 34-36
Author(s):  
Kisha D. DeSandies ◽  
Gabriella Madden
Keyword(s):  
Nucleic Acid ◽  
Muscular Dystrophy ◽  
Muscle Protein ◽  
Genetic Defect ◽  
Term Treatment ◽  
Embryonic Cells ◽  
Long Term Treatment ◽  
Childhood Form ◽  
College Of Osteopathic Medicine

Tens of thousands of Americans suffer from muscular dystrophy (MD), a disease that gradually deteriorates a person's skeletal muscle. While there is no effective cure, scientists know MD is caused by a genetic defect and are searching for treatments that will stop or retard the deterioration of muscle. In June, American and British researchers announced the success of a long-term treatment that repairs the genetic defect in Duchenne muscular dystrophy, the most common childhood form of MD.Last fall, these researchers injected a short strand of nucleic acid into the shin muscle of a six-week old golden retriever - which had a genetic defect that leads to Duchenne MD in dogs - in order to maintain normal levels of dystrophin, the muscle protein missing in Duchenne MD. Their goal was for the nucleic acid to trigger the dog's system to correct the genetic defect. Eleven months later, the injected muscle continues to show normal levels of dystrophin.

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